|
| Entrez Id: |
51412 |
| Gene Symbol: |
ACTL6B |
ACTL6B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
|
| Entrez Id: |
10059 |
| Gene Symbol: |
DNM1L |
DNM1L
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.
|
26604000 |
2016 |
|
| Entrez Id: |
10059 |
| Gene Symbol: |
DNM1L |
DNM1L
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
|
27145208 |
2016 |
|
| Entrez Id: |
51067 |
| Gene Symbol: |
YARS2 |
YARS2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
|
27145208 |
2016 |
|
| Entrez Id: |
51067 |
| Gene Symbol: |
YARS2 |
YARS2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.
|
26604000 |
2016 |
|
| Entrez Id: |
2782 |
| Gene Symbol: |
GNB1 |
GNB1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
|
| Entrez Id: |
9439 |
| Gene Symbol: |
MED23 |
MED23
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
B3GALNT2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1200 |
| Gene Symbol: |
TPP1 |
TPP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57102 |
| Gene Symbol: |
C12orf4 |
C12orf4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54888 |
| Gene Symbol: |
NSUN2 |
NSUN2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54862 |
| Gene Symbol: |
CC2D1A |
CC2D1A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
50651 |
| Gene Symbol: |
SLC45A1 |
SLC45A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8492 |
| Gene Symbol: |
PRSS12 |
PRSS12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23043 |
| Gene Symbol: |
TNIK |
TNIK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9524 |
| Gene Symbol: |
TECR |
TECR
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9255 |
| Gene Symbol: |
AIMP1 |
AIMP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8869 |
| Gene Symbol: |
ST3GAL5 |
ST3GAL5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79791 |
| Gene Symbol: |
FBXO31 |
FBXO31
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4615 |
| Gene Symbol: |
MYD88 |
MYD88
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55180 |
| Gene Symbol: |
LINS1 |
LINS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80153 |
| Gene Symbol: |
EDC3 |
EDC3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
11253 |
| Gene Symbol: |
MAN1B1 |
MAN1B1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5279 |
| Gene Symbol: |
PIGC |
PIGC
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10765 |
| Gene Symbol: |
KDM5B |
KDM5B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|